The Indian Journal of Pediatrics

, Volume 55, Issue 6, pp 861–870 | Cite as

Diagnostic approach to coarse facies

  • T. Y. Kagalwala
  • B. A. Bharucha
  • R. D. Khare
  • N. B. Kumta
Special Articles

Abstract

Differential diagnosis of coarse fades with a plan of investigations is presented. An algorithm has been devised for cases of mucopolysaccharidoses.

Key words

Inborn errors of metabolism Mucopolysaccharidoses 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Smith DW.Recognisable patterns of human malformations. 3rd ed. Philadelphia: WB Saunders Co. 1982Google Scholar
  2. 2.
    Gorlin RJ, Pindborg JJ, Cohen MM,Syndromes of the head and neck 2nd ed. New York: McGraw-Hill Book Co. 1976Google Scholar
  3. 3.
    Goodman RM, Gorlin RJ.Atlas of the face in genetic disorders 2nd ed. St. Louis: CV Mosby Co. 1977Google Scholar
  4. 4.
    McKusick VA.Heritable disorders of connective tissue 4th ed. St. Louis: CV Mosby Co. 1972Google Scholar
  5. 5.
    Cawson RA.The oral changes in gargoylism. Proc R Soc Med 1962; 55:1066–1970Google Scholar
  6. 6.
    Caffey J. The mucopolysacchariodoses. In:Pediatric X-ray diagnosis. 7th ed. Chicago : Year Book Med Pub Inc 1978; pl21Google Scholar
  7. 7.
    Spranger JW, Langar LO, Wiedemann H-R Bone dysplasias. In:Atlas of contitutional disorders of the skeletal development Philadelphia : WB Saunders Co. 1974Google Scholar
  8. 8.
    Gardner JM, Hay JR.Hurler’s syndrome with clearcornea (Letter),Lancet 1974;ii: 845CrossRefGoogle Scholar
  9. 9.
    McKusick VA, Neufeld EF. The Mucopolysaccharide storage disease. In:The metabolic basis of inherited disease. Stanbury JB (eds) 5th ed. New York: McGraw-Hill Book Co. 1983; 761Google Scholar
  10. 10.
    Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds).The metabolic basis of inherited disease 5th ed. New York: McGraw-Hill Book Co. 1983Google Scholar
  11. 11.
    Lewis PW, Raine DN, Kennedy JF. Recognition of the mucopolysaccharidoses by four screening tests, including a refinement of the albumin turbidity test, and thendifferentiation by electrophoretic separation of urinary glycosaminoglycans.Ann Clin Biochem 1974;11: 67–71Google Scholar
  12. 12.
    Coffin GS, Siris ER, Wegienka LC. Mental retardation with Osteo-cartilaginous anomalies.Am J Dis Child 1966;112: 205–213Google Scholar
  13. 13.
    Lowry RB, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome: Association with small stature, tapering fingers, characteristic fades and possible hydrocephalus.Am J Dis Child 1971;121:496–500PubMedGoogle Scholar
  14. 14.
    Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx.Am J Dis Child 1970;119: 433–439PubMedGoogle Scholar
  15. 15.
    Behrman RE, Vaughan VC, III,Nelson Text book of pediatrics 12th ed. Philadelphia: WB Saunders, 1983Google Scholar
  16. 16.
    Adams RD, Giiles L.Neurology of hereditary metabolic diseases of children New York: McGraw-Hill Book Co, 1982Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 1988

Authors and Affiliations

  • T. Y. Kagalwala
    • 1
  • B. A. Bharucha
    • 1
  • R. D. Khare
    • 1
  • N. B. Kumta
    • 1
  1. 1.Department of PediatricsSeth G.S. Medical College and K.E.M. HospitalParel, Bombay

Personalised recommendations